EBF1
EBF1 is one of a number of genes(https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
| Entity | Tier | Description |
|---|---|---|
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
| FL | 1-a | aSHM target and high-confidence FL gene |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.08 |
| BL | Thomas cohort | 1.30 |
| BL | Panea cohort | 5.90 |
| DLBCL | GAMBL genomes | 8.99 |
| DLBCL | Schmitz cohort | 10.85 |
| DLBCL | Reddy cohort | 8.81 |
| DLBCL | Chapuy cohort | 12.82 |
| FL | GAMBL genomes | 8.55 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 2.304 | 0.000 |
| DLBCL | Yes | Yes | 11.910 | 66.114 |
| FL | Yes | Yes | 17.826 | 91.742 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr5 | 158500476 | 158532769 | TSS | active_promoter |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr5 | 158526467 | C>T | S7N |
| chr5 | 158526456 | T>C | S11G |
| chr5 | 158526413 | T>C | N25S |
| chr5 | 158511720 | T>C | N147D |
| chr5 | 158511714 | C>T | E149K |
| chr5 | 158511705 | G>C | R152G |
| chr5 | 158511698 | A>C | L154W |
| chr5 | 158511677 | C>A | C161F |
| chr5 | 158500470 | C>T | R163H |
| chr5 | 158500468 | A>G | C164R |
| chr5 | 158500467 | C>G | C164S |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
Disclaimer
The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.
In particular, let us know if you feel that an important citation is missing or if a paper has been cited incorrectly.
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
Share — copy and redistribute the material in any medium or format for any purpose, even commercially.
Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.